Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

ABSTRACT:

Purpose

Mucosal melanoma represents ~1% of all melanomas, frequently having a poor prognosis due to diagnosis at a late stage of disease. Mucosal melanoma differs from cutaneous melanoma not only in terms of poorer clinical outcome but also on the molecular level having e.g. less BRAF and more frequent KIT mutations than cutaneous melanomas. For the majority of mucosal melanomas oncogenic driver mutations remain unknown.

Experimental design and results

In our study, 75 tumor tissues from patients diagnosed with mucosal melanoma were analyzed, applying a targeted next generation sequencing panel covering 29 known recurrently mutated genes in melanoma. NF1 and RAS mutations were identified as the most frequently mutated genes occurring in 18.3% and 16.9% of samples, respective

SUBMITTER: Cosgarea I 

PROVIDER: S-EPMC5522195 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature